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128106003: Hereditary von Willebrand disease type 1 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
194700017 von Willebrand disease type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
206396018 Hereditary von Willebrand disease type 1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5156373018 Hereditary von Willebrand disease type 1 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5156372011 A form of von Willebrand disease (VWD) with characteristics of a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF). The type 1 disease is considered to be the most common form of VWD, caused by mutations in the VWF gene (12p13.3). Transmitted in an autosomal dominant manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
883121000172110 maladie de von Willebrand type 1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary von Willebrand disease type 1 Is a von Willebrand disorder false Inferred relationship Some
Hereditary von Willebrand disease type 1 Finding site Entire hematological system (body structure) false Inferred relationship Some
Hereditary von Willebrand disease type 1 Finding site Body system structure false Inferred relationship Some
Hereditary von Willebrand disease type 1 Has definitional manifestation Hemostatic system finding false Inferred relationship Some
Hereditary von Willebrand disease type 1 Interprets Hemostatic function true Inferred relationship Some 1
Hereditary von Willebrand disease type 1 Has interpretation Abnormal true Inferred relationship Some 1
Hereditary von Willebrand disease type 1 Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hereditary von Willebrand disease type 1 Is a Hereditary von Willebrand disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary von Willebrand disease type 1C Is a True Hereditary von Willebrand disease type 1 Inferred relationship Some
Hereditary von Willebrand disease type 1B Is a True Hereditary von Willebrand disease type 1 Inferred relationship Some
Hereditary von Willebrand disease type 1A Is a True Hereditary von Willebrand disease type 1 Inferred relationship Some

This concept is not in any reference sets

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